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Tytuł:
Analysis of the association between rs12917707 and rs11864909 single nucleotide polymorphisms in the region of the uromoduline gene and chronic kidney disease - a family-based study
Autorzy:
Żywiec, Joanna
Kiliś-Pstrusińska, Katarzyna
Tomaszewski, Maciej
Grzeszczak, Władysław
Powiązania:
https://bibliotekanauki.pl/articles/990841.pdf
Data publikacji:
2017
Wydawca:
Instytut Medycyny Wsi
Tematy:
chronic kidney disease
genetic association
family-based study
umod polymorphism
Opis:
Chronic kidney disease (CKD) is an important challange for healthcare systems wordwide because of its high prevalence and serious late complications. The results of recent studies suggest an association between CKD development and genetic variation within the uromodulin gene (UMOD). The aim of this study was to investigate associations between two common single nucleotide polymorphisms – rs12917707 and rs11864909, located in the region of UMOD and chronic renal disease. The study group consisted of 109 patients with chronic kidney disease, caused by chronic renal glomerulonephritis or chronic tubulointerstitial nephritis, and 109 pairs of their biological parents. Genotyping for rs12917707 and rs11864909 was carried out using the TaqMan Pre-designed SNP Genotyping Assay. In the transsmission disequilibrium test, allele C of rs11864909 was preferentialy transmitted from parents to the children with chronic tubulointerstinal nephritis. The rs12917707 was not associated with CKD. Neither of the investigated polymorphisms was associated with the progression of chronic kidney disease. The obtained results suggest an association of rs11864909 with chronic kidney disease secondary to chronic tubulointerstinal nephritis.
Źródło:
Annals of Agricultural and Environmental Medicine; 2017, 24, 3
1232-1966
Pojawia się w:
Annals of Agricultural and Environmental Medicine
Dostawca treści:
Biblioteka Nauki
Artykuł
Tytuł:
Influence of erythropoietin gene promoter polymorphism rs 1617640 on the incidence and progression of chronic kidney disease; a family-based study
Wpływ polimorfizmu rs 1617640 promotora genu erytropoetyny na występowanie i progresję przewlekłej choroby nerek; badania rodzinne
Autorzy:
Żywiec, Joanna
Kiliś-Pstrusińska, Katarzyna
Grzeszczak, Władysław
Gumprecht, Janusz
Trautsolt, Wanda
Górczyńska-Kosiorz, Sylwia
Powiązania:
https://bibliotekanauki.pl/articles/1038897.pdf
Data publikacji:
2012
Wydawca:
Śląski Uniwersytet Medyczny w Katowicach
Tematy:
chronic kidney disease
erythropoietin gene promoter polymorphism
family-based study
przewlekła choroba nerek
badania rodzinne
polimorfizm promotora genu dla erytropoetyny
Opis:
INTRODUCTION The aetiology of chronic kidney disease (CKD) and its progression are multifactorial in nature. A number of reports have demonstrated the nonhaematological local protective properties of erythropoietin in diff erent tissues, including those in the kidneys. The primary goal of the reported, family-based study was to assess the influence of rs 1617640 erythropoietin gene promoter polymorphism on the incidence and progression of CKD. MATERIAL AND METHODS For that purpose, 109 patients with CKD (72.5% with chronic interstitial nephritis and 27.5% with chronic glomerulonephritis) and their parents were examined. At the time of the study, the mean glomerular filtration rate was 28.2 ml/min and 53.2% patients were maintained on renal replacement therapy. Fluorescence labelled probes of the TaqMan Pre-designed SNP Genotyping Assay (Applied Biosystems Company) were used for rs1617640 polymorphism investigation. RESULTS The genome distribution of rs 1617640 polymorphism of the erythropoietin gene promoter was: 48.6% AC, 25.7% AA and 25.7% CC patients. Based on Transmission Disequilibrium Test results, the bordeline statistical significance of preferential C allele transfer from parents to their affected children with glomerulonephritis was observed. CONCLUSIONS No influence of rs 1617640 promoter polymorphism of the erythropoietin gene on the incidence of CKD in the course of chronic interstitial nephritis was observed. The bordeline signifi cance of preferential C allele transfer in patients with glomerulonephritis suggests association between rs1617640 and CKD of this aethiology.
WSTĘP Etiologia przewlekłego uszkodzenia nerek oraz jego progresji jest wieloczynnikowa. Prace ostatnich lat dowodzą znaczenia pozaszpikowego miejscowego działania ochronnego erytropoetyny w wielu tkankach, w tym także w nerkach. Celem pracy była ocena w modelu rodzinnym wpływu polimorfizmu rs1617640 promotora genu dla erytropoetyny na rozwój i progresję przewlekłej choroby nerek. MATERIAŁ I METODY Badania przeprowadzono w grupie 109 chorych na przewlekłą chorobę nerek w przebiegu przewlekłego śródmiąższowego zapalenia nerek (72,5%) i przewlekłego kłębuszkowego zapalenia nerek (27,5%) oraz u 218 ich biologicznych rodziców. W momencie prowadzenia badania średnia filtracja kłębuszkowa (GFR) wynosiła 28,2 ml/min, a 53,2% chorych było leczonych nerkozastępczo. Genotypowanie polimorfizmu rs1617640 w promotorze genu erytropoetyny wykonano, wykorzystując znakowane fluorescencyjnie sondy z zestawu TaqMan Pre-designed SNP Genotyping Assay firmy Applied Biosystems. WYNIKI Analizując rozkład genotypów badanego polimorfizmu, stwierdzono: u 48,6% chorych genotyp AC, a u pozostałych chorych w równym procencie (po 25,7%) genotyp AA i CC. W teście TDT (Transmission Disequilibrium Test) wykazano na granicy istotności statystycznej przekazywanie preferencyjne allelu C w grupie chorych z przewlekłym kłębuszkowym zapaleniem nerek. WNIOSKI Nie obserwowano wpływu polimorfizmu rs1617640 genu promotora dla erytropoetyny na występowanie przewlekłego uszkodzenia nerek w przebiegu przewlekłego środmiąższowego zapalenia nerek. Stwierdzone na granicy istotności statystycznej, preferencyjne przekazywanie allelu C w grupie chorych na przewlekłe kłębuszkowe zapalenie nerek, sugeruje związek rs1617640 z przewlekłą chorobą nerek o tej etiologii.
Źródło:
Annales Academiae Medicae Silesiensis; 2012, 66, 4; 17-23
1734-025X
Pojawia się w:
Annales Academiae Medicae Silesiensis
Dostawca treści:
Biblioteka Nauki
Artykuł
Tytuł:
Parametry populacyjne jelenia szlachetnego (Cervus elapus L.) w leśnym Kompleksie Promocyjnym "Lasy Mazurskie". Część II. Zależność między liczbą odnóg na tykach a masą poroża byków pozyskanych w wyniku prowadzonej selekcji
Evaluation of the red deer [Cervus elaphus L.] in the 'Lasy Mazurskie' Forest Promotional Complex. Part II. Relationship between the number of branches in main beams and antlers weight of stags shot in selection culls
Autorzy:
Żurkowski, M.
Czyżyk, P.
Powiązania:
https://bibliotekanauki.pl/articles/1017394.pdf
Data publikacji:
2007
Wydawca:
Polskie Towarzystwo Leśne
Tematy:
selekcja
zwierzeta lowne
lowiectwo
masa poroza
poroze
Lasy Mazurskie
lesne kompleksy promocyjne
lesnictwo
jelen europejski
jakosc
Cervus elaphus
byki
genetic diversity
isozyme polymorphism
picea abies
poland
Opis:
The genetic structure of Norway spruce [Picea abies (L.) Karst] of the Istebna race was studied in two populations from the Carpathian seed stands in the Malinka and Czarne Forestries. The recent provenance test results have shown a high quality of both populations. The results were compared with the genetic variation parameters calculated for the selected seed stand from the Bukowiec Forestry (compartment 149h), whose genetic structure in the progeny test for this species is considered a national standard. Five enzyme systems were analysed. The results show that the mean number of alleles per locus and the heterozygosity observed in the analysed populations are greater than those reported in the literature for other natural Norway spruce populations from the Carpathians. The heterozygosity level of the studied seed stands was higher than of the selective population of the Istebna spruce plus trees and the level of genetic diversity was similar to that of the Bukowiec seed stands. Thus, it can be concluded that the analysed seed stands from Czarne and Malinka, compartment 91h can be used as a supplementary seed base. However, at the individual partial population level, the Bukowiec spruce population, compartment 149h is considered to be of the highest value.
Źródło:
Sylwan; 2007, 151, 10; 38-46
0039-7660
Pojawia się w:
Sylwan
Dostawca treści:
Biblioteka Nauki
Artykuł
Tytuł:
Selekcja genomowa w hodowli drzew leśnych - podstawowe założenia, problemy i perspektywy
Genomic selection in forest tree breeding - basic principles, problems and future prospects
Autorzy:
Żukowska, W.B.
Wójkiewicz, B.
Lewandowski, A.
Powiązania:
https://bibliotekanauki.pl/articles/978931.pdf
Data publikacji:
2020
Wydawca:
Polskie Towarzystwo Leśne
Tematy:
breeding value
genetic gain
genetic markers
marker−assisted selection
quantitative trait locus
single
nucleotide polymorphism
Opis:
All tree breeders cope with the same challenge of the very long time interval of a single breeding cycle. What is more, trees are long−lived, with desirable breeding traits expressing late during their life cycle. Increasing problems with climate change, globalization or economic growth have forced us to accelerate tree breeding and improve selection precision, both of which can be achieved by genomic selection (GS). The idea of GS was introduced nearly 20 years ago as an extension of marker−assisted selection (MAS) in order to advance breeding technologies using genetic markers. Unlike MAS, which exploits only a set of marker−trait associations, GS relies on a high number of genetic markers that are spread throughout the entire length of the genome. All markers effects are assessed simultaneously in order to build a precise model that allows prediction of genetic estimated breeding value of a particular individual using genetic data only. GS has already revolutionized dairy cattle breeding resulting in remarkable improvements across multiple traits and is becoming more and more common in crop production. We now know that genetic architecture of quantitative traits is complex, but recent advances in genomics have made it possible to deal with this problem in an unprecedented way. There are certain concerns regarding GS in forest tree species that include genotype−environment (G×E) interaction and the usefulness of the predictive model built up by GS in the next generation of trees. Nevertheless, experimental results obtained so far have shown that the genetic gain per unit time as well as selection precision can be substantially increased. Here we present the basic principles of GS for forest tree species, giving examples of studies carried out so far and discussing problems and future possibilities that GS may soon open up for forest tree breeders.
Źródło:
Sylwan; 2020, 164, 05; 384-391
0039-7660
Pojawia się w:
Sylwan
Dostawca treści:
Biblioteka Nauki
Artykuł
Tytuł:
Genetic variability in selected Polish population of Dreissena polymorpha [Pallas] [Bivalvia; Dreissenidae]
Autorzy:
Zielinski, R
Soroka, M
Wachowiak-Zielinska, M
Powiązania:
https://bibliotekanauki.pl/articles/2047704.pdf
Data publikacji:
1996
Wydawca:
Polska Akademia Nauk. Czytelnia Czasopism PAN
Tematy:
genetic variability
Polska
Bivalvia
Dreissena polymorpha
enzyme polymorphism
population
Dreissenidae
Opis:
Genetic variability of a selected population of Dreissena polymorpha, an invasive species playing a significant role in aquatic ecosystems, was studied. Starch gel electrophoresis was used to analyse 8 enzymatic loci in 200 individuals collected from 20 sites in a lake. The population was found to have 75.0% of polymorphic loci, 2.8 alleles per locus, 3.5 alleles per polymorphic locus, 0.393 coefficient of expected heterozygosity, and 149 genotypes. Zebra mussel clumps were strongly polymorphic; almost every individual had a different genotype. The high polymorphism observed in the D. polymorpha clumps had most likely resulted from external cross-fertilisation and the presence of free-swimming veliger larvae as well as from a considerable heterozygosity of individual bivalves. Genetic variability of the population studied was found to be similar to that of populations inhabiting other Western Pomeranian lakes, including both highly polluted ones and those formed as recently as about 40 years ago. This provides evidence for a mass colonisation of freshwater reservoirs effected by very polymorphic parent populations of D. polymorpha. The literature data on North American zebra mussel populations which invaded that continent about 10 years ago show them to be polymorphic, too, but not as much as European ones.
Źródło:
Journal of Applied Genetics; 1996, 37, 1; 105-120
1234-1983
Pojawia się w:
Journal of Applied Genetics
Dostawca treści:
Biblioteka Nauki
Artykuł
Tytuł:
Preliminary study to explore gene-$\text{PM}_\text{2.5}$ interactive effects on respiratory system in traffic policemen
Autorzy:
Zhao, Jinzhuo
Bo, Liang
Gong, Changyi
Cheng, Peng
Kan, Haidong
Xie, Yuquan
Song, Weimin
Powiązania:
https://bibliotekanauki.pl/articles/2177102.pdf
Data publikacji:
2015-08-07
Wydawca:
Instytut Medycyny Pracy im. prof. dra Jerzego Nofera w Łodzi
Tematy:
inflammation
Fine Particles
traffic workers
respiratory system
single nucleotide polymorphism
SNP
Opis:
Objectives Traffic-related particulate matter (PM) is one of the major sources of air pollution in metropolitan areas. This study is to observe the interactive effects of gene and fine particles (particles smaller than 2.5 μm – $\text{PM}_\text{2.5}$) on the respiratory system and explore the mechanisms linking $\text{PM}_\text{2.5}$ and pulmonary injury. Material and Methods The participants include 110 traffic policemen and 101 common populations in Shanghai, China. Continuous 24 h individual-level $\text{PM}_\text{2.5}$ is detected and the pulmonary function, high-sensitivity C-reactive protein (hs-CRP), Clara cell protein 16 (CC16) and the polymorphism in CXCL3, NME7 and C5 genes are determined. The multiple linear regression method is used to analyze the association between $\text{PM}_\text{2.5}$ and health effects. Meanwhile, the interactive effects of gene and $\text{PM}_\text{2.5}$ on lung function are analyzed. Results The individual $\text{PM}_\text{2.5}$ exposure for traffic policemen was higher than that in the common population whereas the forced expiratory volume in 1 s (FEV₁), the ratio of FEV₁ to forced vital capacity (FEV₁/FVC) and lymphocytes are lower. In contrast, the hs-CRP level is higher. In the adjusted analysis, $\text{PM}_\text{2.5}$ exposure was associated with the decrease in lymphocytes and the increase in hs-CRP. The allele frequencies for NME7 and C5 have significant differences between FEV₁/FVC ≤ 70% and FEV₁/FVC > 70% participants. The results didn’t find the interaction effects of gene and $\text{PM}_\text{2.5}$ on FEV₁/FVC in all the 3 genes. Conclusions The results indicated that traffic exposure to high levels of $\text{PM}_\text{2.5}$ was associated with systemic inflammatory response and respiratory injury. Traffic policemen represent a high risk group suffering from the respiratory injury.
Źródło:
International Journal of Occupational Medicine and Environmental Health; 2015, 28, 6; 971-983
1232-1087
1896-494X
Pojawia się w:
International Journal of Occupational Medicine and Environmental Health
Dostawca treści:
Biblioteka Nauki
Artykuł
Tytuł:
Frequent D-loop polymorphism in mtDNA enables genotyping of 1400-year-old human remains from Merowingian graves
Autorzy:
Zeller, M
Mirghomizadeh, F.
Wehner, H.D.
Blin, N.
Powiązania:
https://bibliotekanauki.pl/articles/2042042.pdf
Data publikacji:
2000
Wydawca:
Polska Akademia Nauk. Czytelnia Czasopism PAN
Tematy:
X chromosome
ancient remains
amplification technique
Y chromosome
ancient DNA
mtDNA
remains
Merowingian culture
polymorphism
mitochondrial DNA
man
DNA marker
DNA extraction
DNA
Źródło:
Journal of Applied Genetics; 2000, 41, 4; 285-292
1234-1983
Pojawia się w:
Journal of Applied Genetics
Dostawca treści:
Biblioteka Nauki
Artykuł
Tytuł:
SOCS3 is epigenetically up-regulated in steroid resistant nephrotic children
Autorzy:
Zaorska, Katarzyna
Zawierucha, Piotr
Ostalska-Nowicka, Danuta
Nowicki, Michał
Powiązania:
https://bibliotekanauki.pl/articles/1038853.pdf
Data publikacji:
2016
Wydawca:
Polskie Towarzystwo Biochemiczne
Tematy:
methylation
nephrotic syndrome
single nucleotide polymorphism
steroid resistance
Opis:
Background. The mechanism of steroid resistance in children with the nephrotic syndrome is yet unknown. About 20% of patients demonstrate steroid unresponsiveness and progress to end stage renal disease. Aberrant SOCS3 and SOCS5 expression in steroid resistant and sensitive patients has previously been demonstrated. Here, we investigate genetic and epigenetic mechanisms of regulation of SOCS3 and SOCS5 transcription in nephrotic children. Methods. 76 patients with the nephrotic syndrome (40 steroid resistant and 36 steroid sensitive) and 33 matched controls were included in this study. We performed genotyping of a total of 34 single nucleotide polymorphisms for SOCS3 and SOCS5 promoters and evaluated their methylation status using MS-PCR and QMSP methods. Results. Steroid resistant patients had a significantly lower methylation of one region of SOCS3 promoter in comparison with steroid sensitive patients and controls (p < 0.0001). However, the relative methylation level in the steroid sensitive patients and controls differed significantly even before the first steroid dose (p = 0.001758). Other SOCS3 and SOCS5 promoter regions displayed no differences in methylation or were fully methylated/unmethylated in all study groups, showing site-specific methylation. The allele and genotype distribution for SOCS3 and SOCS5 markers did not differ statistically between the groups. Conclusions. We demonstrate an epigenetic mechanism of SOCS3 up-regulation in steroid resistant children with the nephrotic syndrome. The assessment of methylation/unmethylation of SOCS3 promoter might be an early marker for steroid responsiveness in NS patients.
Źródło:
Acta Biochimica Polonica; 2016, 63, 1; 131-138
0001-527X
Pojawia się w:
Acta Biochimica Polonica
Dostawca treści:
Biblioteka Nauki
Artykuł
Tytuł:
Uwarunkowania genetyczne rozszczepu wargi górnej i/lub podniebienia - czy polimorfizm genu MMP2 ma znaczenie w rozwoju tej wady?
Cleft lip and/or palate genetic conditioning - is MMP2 gene polymorphism important for this defect development?
Autorzy:
Zalewska-Ziob, Marzena
Adamek, Brygida
Kasperczyk, Jolanta
Łyko, Dorota
Płachetka, Anna
Rokicki, Marek
Machorowska-Pieniążek, Agnieszka
Baron, Stefan
Niedzielska, Iwona
Wiczkowski, Andrzej
Powiązania:
https://bibliotekanauki.pl/articles/1033402.pdf
Data publikacji:
2014
Wydawca:
Medical Communications
Tematy:
MMP2 gene promoter polymorphism
cleft lip and/or palate
matrix metalloproteinase 2
rozszczep wargi i/lub podniebienia
metaloproteinaza macierzy zewnątrzkomórkowej 2
polimorfizm
promotora genu mmp2
Opis:
Introduction: Cleft lip/palate is one of the most common congenital malformations. In Poland, approximately 500 children with an orofacial cleft are born every year. Matrix metalloproteinases are involved in periodontal tissue remodelling and degradation. Polymorphisms in the promoter region of the MMP2 gene may affect transcription and activity of the protein produced by this gene. The aim of the study was to examine 1306 C/T MMP2 gene promoter polymorphisms in the group of children with cleft lip/palate and in the control group as well as to determine the frequency of individual genotypes in different types of orofacial clefts. Material and methods: The study was conducted in the group of 150 children with cleft lip/palate and 102 children without an orofacial cleft. Genomic DNA was obtained from oral mucosa epithelium. The MMP2 gene promoter polymorphism was genotyped by tetra-primer ARMS-PCR. Results: There are no significant differences in the frequency of individual alleles in different types of orofacial clefts. The occurrence of the CC genotype was significantly higher in the group with cleft lip and palate than in the healthy group (p = 0.005). Conclusion: Determining the polymorphism of matrix metalloproteinase gene promoter sequence can contribute to the elucidation of cleft lip/palate aetiopathogenesis.
Wstęp: Rozszczep wargi górnej i/lub podniebienia jest jedną z najczęściej występujących wad rozwojowych. W Polsce każdego roku przychodzi na świat około 500 dzieci z rozszczepem w okolicy twarzoczaszki. W proces tworzenia struktur twarzoczaszki zaangażowane są metaloproteinazy macierzy zewnątrzkomórkowej, odpowiedzialne za przebudowę i degradację podłoża łącznotkankowego. Polimorfizm w regionie promotorowym genu kodującego MMP2 może mieć wpływ na efektywność transkrypcji, a tym samym na aktywność produktu białkowego tego genu. Celem niniejszej pracy była ocena polimorfizmu 1306 C/T promotora genu MMP2 w grupie dzieci z rozszczepem wargi i/lub podniebienia oraz w grupie kontrolnej, a także ocena częstości występowania poszczególnych genotypów w różnych typach rozszczepów. Materiał i metoda: Badanie przeprowadzono w grupie 150 dzieci z rozpoznanym rozszczepem wargi i/lub podniebienia oraz w grupie 102 dzieci bez wady rozszczepowej twarzoczaszki. Genomowe DNA uzyskano z komórek nabłonkowych błony śluzowej jamy ustnej. Polimorfizm promotora genu MMP2 oznaczono metodą tetra-primer ARMS-PCR. Wyniki: Nie stwierdzono istotnych różnic w częstości występowania poszczególnych alleli w różnych typach rozszczepów. Częstość występowania genotypu CC w grupie dzieci z rozszczepem wargi i podniebienia była znacząco wyższa w porównaniu z grupą kontrolną (p = 0,005). Wniosek: Określenie polimorfizmu sekwencji promotorowych genów kodujących metaloproteinazy macierzy zewnątrzkomórkowej może przyczynić się do wyjaśnienia etiopatogenezy rozszczepu wargi i/lub podniebienia.
Źródło:
Pediatria i Medycyna Rodzinna; 2014, 10, 3; 306-314
1734-1531
2451-0742
Pojawia się w:
Pediatria i Medycyna Rodzinna
Dostawca treści:
Biblioteka Nauki
Artykuł
Tytuł:
Zaburzenia kaskady transformujących czynnikow wzrostu typu β w wybranych patologiach człowieka
Aberrations in the signalling cascade of transforming growth factor β type in selected human pathologies
Autorzy:
Zakrzewski, Piotr
Powiązania:
https://bibliotekanauki.pl/articles/1032754.pdf
Data publikacji:
2012
Wydawca:
Łódzkie Towarzystwo Naukowe
Tematy:
transformujące czynniki wzrostu typu β - tgfβ
sygnalizacja
komórkowa
patofizjologia
polimorfizm
mutacje
transforming growth factor β type - tgfβ
cellular signalling
pathophysiology
polymorphism
mutations
Opis:
A transforming growth factor β type (TGFβ) cascade is a multifactorial signalling pathway, which controls the plethora of cellular processes responsible for human organism homeostasis. The importance of alterations of TGFβ-induced signalling remains unknown. Up till now, impaired TGFβ signalling has been observed in pathologies of the musculoskeletal, cardiovascular and reproductive systems. Abnormalities in the TGFβ pathway can be either genetically determined or appear as spontaneous disorders which emerged during embryonic development. Understanding the role of the TGFβ pathway in the aetiology of various diseases appears to be necessary as it may serve in developing new strategies for therapeutic or diagnostic methods.
Kaskada sygnalizacyjna transformujących czynników wzrostu typu β (TGFβ) stanowi indukowany przez wiele cytokin szlak przekazywania sygnału w komórce, pod kontrolą którego znajduje się szereg procesów komórkowych odpowiedzialnych za prawidłowe funkcjonowanie ludzkiego organizmu. Znaczenie zaburzeń sygnalizacji indukowanej czynnikami TGFβ pozostaje nadal nie do końca poznane. Niemniej jednak już na obecnym etapie badań stwierdzić można ich bezsprzeczny udział w patologiach układu kostno-mięśniowego, układu krwionośnego czy układu rozrodczego.
Źródło:
Folia Medica Lodziensia; 2012, 39, 2; 265-292
0071-6731
Pojawia się w:
Folia Medica Lodziensia
Dostawca treści:
Biblioteka Nauki
Artykuł
Tytuł:
Polymorphism of nine canine-derived microsatellites in farm silver foxes [Vulpes fulvus]
Autorzy:
Zajac, M
Klukowska, J.
Slomski, R.
Switonski, M.
Powiązania:
https://bibliotekanauki.pl/articles/2043146.pdf
Data publikacji:
2000
Wydawca:
Polska Akademia Nauk. Czytelnia Czasopism PAN
Tematy:
polymorphism
Vulpes fulvus
Canidae
microsatellite
silver fox
dog
farm
genome
genetic marker
fox
blue fox
Źródło:
Journal of Applied Genetics; 2000, 41, 1; 43-50
1234-1983
Pojawia się w:
Journal of Applied Genetics
Dostawca treści:
Biblioteka Nauki
Artykuł
Tytuł:
Polymorphic analysis of peptide binding domain of major histocompatibility complex class I in domestic ducks
Autorzy:
Yu, S.
Wu, J.
Bai, J.
Ding, Y.
Qiu, W.
Zhang, L.
Powiązania:
https://bibliotekanauki.pl/articles/2087551.pdf
Data publikacji:
2019
Wydawca:
Polska Akademia Nauk. Czytelnia Czasopism PAN
Tematy:
domestic duck
highly variably sites
MHC class I
peptide binding domain
phylogenetic tree
polymorphism
Źródło:
Polish Journal of Veterinary Sciences; 2019, 2; 415-422
1505-1773
Pojawia się w:
Polish Journal of Veterinary Sciences
Dostawca treści:
Biblioteka Nauki
Artykuł
Tytuł:
Cytochrome P4502C9 genotype in Southeast Anatolia and possible relation with some serum tumour markers and cytokines.
Autorzy:
Yılmaz, Necat
Erbağcı, Ayşe
Aynacioğlu, A
Powiązania:
https://bibliotekanauki.pl/articles/1044109.pdf
Data publikacji:
2001
Wydawca:
Polskie Towarzystwo Biochemiczne
Tematy:
CYP2C9 polymorphism
Anatolia
cytokines
tumour markers
Opis:
Substrates for CYP2C9 include fluoxetine, phenytoin, warfarin, losartam and numerous nonsteroidal anti-inflammatory drugs. Polymorphisms in the coding region of the CYP2C9 gene produce variants at amino-acid residues 144 Arg/Cys and 359 Ile/Leu of the CYP2C9 protein. Individuals homozygous for Leu359 have markedly diminished metabolic capacities for most CYP2C9 substrates, the frequency of this allele is, however, rather low. Consistently with the modulation of enzyme activity by genetic and other factors, wide interindividual variability occurs in the elimination and/or dosage requirements of prototypic CYP2C9 substrates. The polymorphic enzyme CYP2C9 takes part in the metabolism of alkylating agents and polycyclic aromatic hydrocarbons like benzo(a)pyrene, a carcinogen present in tobacco smoke. Although the impact of impaired enzyme activity in metabolism of carcinogens and procarcinogens has not been fully defined, an association of CYP2C9 variant alleles to DNA adduct levels in lung tissues as well as to lung cancer risk have been reported. In this study 64 healthy subjects (44M/22F) were analysed for CYP2C9 genotype with PCR-RFLP and for serum carcinoembryonic antigen (CEA), α-fetoprotein (AFP), CA 19-9, CA 15-3, ferritin, IL-6, IL-8 concentrations by chemiluminescence or electrochemiluminescence methods. CYP2C9*1 was found to be the most prevalent allele and CYP2C9*1/CYP2C9*1 was the most frequent genotype represented in 64% of the population in southeastern Anatolia (Gaziantep). Although slight differences in serum tumour marker and cytokine concentrations were observed for CYP2C9 genotypes the differences were statistically insignificant (P >0.05). This could be due to the complexity of the role of CYP2C9 in benzo(a)pyrene metabolism as well as from other contributing factors like interindividual variability of diverse enzymes participating in the same metabolic pathway, unequal expression of the variant alleles and differences in exposure to carcinogens. However, determination of CYP2C9 phenotypes in a larger group of subjects might clarify these slight differences.
Źródło:
Acta Biochimica Polonica; 2001, 48, 3; 775-782
0001-527X
Pojawia się w:
Acta Biochimica Polonica
Dostawca treści:
Biblioteka Nauki
Artykuł
Tytuł:
The relationship between -C344/T aldosterone synthase (CYP11B2) gene polymorphism, enzyme activity level and increased risk of nonvalvular atrial fibrillation
Autorzy:
Yatskevich, Karsiaryna
Snezhitskiy, Viktor
Kurbat, Mikhail
Stepuro, Tatiana
Powiązania:
https://bibliotekanauki.pl/articles/552139.pdf
Data publikacji:
2015
Wydawca:
Stowarzyszenie Przyjaciół Medycyny Rodzinnej i Lekarzy Rodzinnych
Tematy:
atrial fibrillation, -C344/T aldosteronsynthase (CYP11B2) gene polymorphism
aldosterone synthase activity
Źródło:
Family Medicine & Primary Care Review; 2015, 2; 136-139
1734-3402
Pojawia się w:
Family Medicine & Primary Care Review
Dostawca treści:
Biblioteka Nauki
Artykuł
Tytuł:
Transferrin receptor levels and polymorphism of its gene in age-related macular degeneration
Autorzy:
Wysokinski, Daniel
Danisz, Katarzyna
Pawlowska, Elzbieta
Dorecka, Mariola
Romaniuk, Dorota
Robaszkiewicz, Jacek
Szaflik, Marta
Szaflik, Jerzy
Blasiak, Janusz
Szaflik, Jacek
Powiązania:
https://bibliotekanauki.pl/articles/1039085.pdf
Data publikacji:
2015
Wydawca:
Polskie Towarzystwo Biochemiczne
Tematy:
AMD
gene polymorphism
iron
oxidative stress
TFRC
transferrin receptor
Opis:
The aim of the present study was to investigate the association of age related macular degeneration (AMD) risk with some aspects of iron homeostasis: iron concentration in serum, level of soluble transferrin receptor (sTfR), and transferrin receptor (TFRC) genetic variability. Four hundred and ninety one AMD patients and 171 controls were enrolled in the study. Restriction fragment length polymorphism PCR was employed to genotype polymorphisms of the TFRC gene, and colorimetric assays were used to determine the level of iron and sTfR. Multiple logistic regression was applied for all genotype/allele-related analyses and the ANOVA test for iron and sTfR serum level comparison. We found that the genotypes and alleles of the c.-253G > A polymorphism of the TFRC gene were associated with AMD risk and this association was modulated by smoking status, AMD family history, living environment (rural/urban), body mass index and age. The levels of sTfR was higher in AMD patients than controls, whereas concentrations of iron did not differ in these two groups. No association was found between AMD occurrence and the p.Gly142Ser polymorphism of the TRFC gene. The results obtained suggest that transferrin receptor and variability of its gene may influence AMD risk.
Źródło:
Acta Biochimica Polonica; 2015, 62, 2; 177-184
0001-527X
Pojawia się w:
Acta Biochimica Polonica
Dostawca treści:
Biblioteka Nauki
Artykuł
Wyświetlanie 1-15 z 216

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